ClinVar Miner

List of variants in gene PCDH19 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001184880.2(PCDH19):c.1321G>C (p.Val441Leu) rs200126728 0.00009
NM_001184880.2(PCDH19):c.1656C>G (p.Ile552Met) rs779051005 0.00006
NM_001184880.2(PCDH19):c.540G>A (p.Thr180=) rs368094294 0.00006
NM_001184880.2(PCDH19):c.2118C>A (p.Asp706Glu) rs1325807867 0.00005
NM_001184880.2(PCDH19):c.2820C>G (p.Thr940=) rs375040933 0.00002
NM_001184880.2(PCDH19):c.768C>T (p.Pro256=) rs761277974 0.00002
NM_001184880.2(PCDH19):c.186C>T (p.Arg62=) rs1282368557 0.00001
NM_001184880.2(PCDH19):c.2767C>T (p.Arg923Trp) rs752763816 0.00001
NM_001184880.2(PCDH19):c.3024C>T (p.Cys1008=) rs1266028176 0.00001
NM_001184880.2(PCDH19):c.3158G>A (p.Arg1053Gln) rs1241637351 0.00001
NM_001184880.2(PCDH19):c.1014C>T (p.Asp338=)
NM_001184880.2(PCDH19):c.1891G>T (p.Gly631Trp) rs750599959
NM_001184880.2(PCDH19):c.2073C>T (p.Ile691=)
NM_001184880.2(PCDH19):c.3183G>C (p.Ala1061=)
NM_001184880.2(PCDH19):c.3270A>C (p.Pro1090=) rs1924607775
NM_001184880.2(PCDH19):c.339C>T (p.Cys113=)
NM_001184880.2(PCDH19):c.564C>A (p.Ala188=) rs1602637704

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